A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088023



Internal ID20655063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58186235..58191528hg38UCSC Ensembl
chr2:58413370..58418663hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg385294
hg195294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348227
Supporting Variants
Samples
Known GenesFANCL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088023
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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